|PRNP Genetic Testing (Blood)|
|Ordering Recommendation||This genetic test can aid in diagnosing genetic prion disease.|
|Methodology||Polymerase Chain Reaction (PCR) amplification and bi-directional sequence analysis of the PRNP gene exon 2.|
|Analytic Timei||30 business days.|
|Submit With Order||
NPDPSC Test Request Form ("Social & Family History" must be filled out)ii. Please submit the Testing & Reporting Policies form (page 4) completed with the order.
|Patient Preparation||Patients under 18 years of age will require documentation of medical necessity, and testing will be approved by NPDPSC Director.|
|Specimen Type||Peripheral Whole Blood.|
|Preferred Container||Ethylenediaminetetraacetic acid (EDTA).|
|Specimen Preparation||Two purple-top tube (EDTA), 5ml each.|
Store blood at room temperature until shipped.
|Unacceptable Conditions||Frozen, clotted, wrong anticoagulant or insufficient sample quantity.|
|Remarks||Complete the required test request forms linked above. Must include both the NPDPSC Test Request Form with the "Social & Family History" section completed, as well as the Testing & Reporting Policies Form for genetic testing to be completed.|
|Stability||Room temperature at 15-30°C: stable up to three days.
Refrigerated at 2-8°C: stable up to seven days.
|PRNP Gene Sequencing||Polymorphism: 129 M/M, M/V or V/V.
Pathogenic (mutation): None or Mutation Type.
Other mutations/polymorphisms: None or Silent Mutation Findings.
i. Expected turnaround-time (business days) for results, beginning when the center receives the specimen.
ii. Effective 08/01/2011, if blood is submitted for Genetic Sequencing on a patient without confirmed family history of genetic CJD. The referring institution or patient will be charged for testing. The basic cost for testing is $274.83.